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NCBI Gene PubMed Count 40
PubMed Score 160.71
PubTator Score 58.05

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Gene RIF (15)

PMID Text
26165230 the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions.
24281366 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
23954869 We confirm that congenital cataract is associated with a CRYGC gene mutation.
23441109 identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract
22876111 A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
22052681 Molecular modeling and spectroscopic studies indicated that the mutation impaired the tertiary structure of gamma C crystallin by modifying the H-bonding network in the C-terminal domain.
21436266 Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation.
21423869 Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed.
19390652 Report a new nonsense mutation (Y56X) in CRYGD and a prev'ly reported missense mutation (R12C) in CRYAA associated with nuclear autosomal dominant congenital cataract in Brazilian families. A new polymorphism (S119S) in CRYGC was observed in one family.
19204787 Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea.
17679936 This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene.
15322286 the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract.
12876325 In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79
12457849 calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride
11904153 The T5P mutation obviously changes conformation and decreases conformational stability.

AA Sequence

MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWM      1 - 70
GLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYR     71 - 140
GRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY                                        141 - 174
//

Text Mined References (41)

PMID Year Title
26165230 2015 Congenital Cataract-Causing Mutation G129C in ?C-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates.
24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
23954869 2013 A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
23441109 2013 Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
22876111 2012 A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
22052681 2012 A novel mutation impairing the tertiary structure and stability of ?C-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
21436266 2011 Overexpression of human ?C-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.
21423869 2011 Mutation screening and genotype phenotype correlation of ?-crystallin, ?-crystallin and GJA8 gene in congenital cataract.
20621668 2010 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
19390652 2009 Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
19204787 2009 A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
18839057 2008 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
18618005 2008 A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
17679936 2007 A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
17327821 2007 Evaluation of three canine gamma-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshund.
16303126 2006 Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15322286 2004 Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant.
12876325 2003 Methylation and carbamylation of human gamma-crystallins.
12601044 2003 Alteration of protein-protein interactions of congenital cataract crystallin mutants.
12507494 2003 Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12457849 2002 Unfolding of human lens recombinant betaB2- and gammaC-crystallins.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
12011157 2002 Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
11700327 2002 Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay.
10914683 2000 A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
10627816 1999 Structure of the crystallins.
10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.
9426193 1997 The crystallins: genes, proteins and diseases.
8999933 1997 Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
8943244 1996 Cloning, expression, and chaperone-like activity of human alphaA-crystallin.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
4065573 1985 Two human gamma-crystallin genes are linked and riddled with Alu-repeats.
4033658 1985 Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.
3670288 1987 Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.
3025877 1987 A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family.
3011643 1986 Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36.
2777080 1989 Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region.
2258929 1990 Human gamma-crystallin genes. A gene family on its way to extinction.